Searchable abstracts of presentations at key conferences in endocrinology
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47th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Cardiff, UK
27 Nov 2019 - 29 Nov 2019

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BSPED 2019, 27 - 29 November 2019; Cardiff, UK

ORAL COMMUNICATIONS

Oral Communications 2

ea0066oc2.1 | Oral Communications 2 | BSPED2019

National United Kingdom evidence- and consensus-based guidelines for the investigation, treatment and long-term follow-up of paediatric craniopharyngioma

Gan Hoong-Wei , Morillon Paul , Albanese Assunta , Aquilina Kristian , Barkas Konstantinos , Chandler Chris , Chang Yen-Ch'ng , Daousi Christina , Drimtzias Evangelos , Farndon Sarah , Jacques Tom , Korbonits Marta , Kuczynski Adam , Limond Jennifer , Robinson Louise , Simmons Ian , Thomas Nick , Thomas Sophie , Thorpe Nicola , Vargha-Khadem Faraneh , Warren Daniel , Zebian Bassel , Gamble Ashley , Wilne Sophie , Harrison Barney , Spoudeas Helen , Mallucci Conor

Aims: Although rare, craniopharyngiomas are the commonest suprasellar tumour in childhood. Despite high overall survival, children and young people <19 years with craniopharyngiomas are at risk of multiple relapses and long-term tumour- and treatment-related morbidity. We sought to provide, for the first time, a national standard for best practice based on currently available evidence for the assessment, treatment and follow-up of paediatric craniopharyngiomas under the au...

ea0066oc2.2 | Oral Communications 2 | BSPED2019

A rare but very important cause of growth failure

Cottrell Emily , Ladha Tasneem , Borysewicz-Sańczyk Hanna , Sawicka Beata , Bossowski Artur , Storr Helen L

Introduction: Bloom syndrome (BS) is a rare autosomal recessive disorder caused by mutations in the BLM gene. Classic dysmorphic features include a long, narrow face, micrognathism and prominent nose and ears. Other features of the disease include pre- and post-natal growth failure, skin rash following sun exposure, hyper-pigmented areas or cafe-au-lait lesions, high-pitched voice and immunodeficiency. The most serious complication of BS is the significant increase in...